Craniosynostosis 3; Crs3

Description

Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013).For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Craniosynostosis 3; Crs3

  • Global developmental delay
  • Strabismus
  • Ptosis
  • Brachydactyly
  • Syndactyly
  • Agenesis of corpus callosum
  • Autism
  • Craniosynostosis
  • Single transverse palmar crease
  • Dental malocclusion

And another 5 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Craniosynostosis 3; Crs3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniofacial Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniofacial Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis Sequence Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SKI, TCF12, TWIST1, ZIC1, IFT122, RAB23, CD96, SPECC1L, WDR35, IFT43, EFNB1, MEGF8, ERF, MSX2, POR, RECQL4
Specificity
6 %
Genes
100 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniosynostosis Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SKI, TCF12, TWIST1, ZIC1, IFT122, RAB23, CD96, SPECC1L, WDR35, IFT43, EFNB1, MEGF8, ERF, MSX2, POR, RECQL4
Specificity
6 %
Genes
100 %
Craniosynostosis Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SKI, TCF12, TWIST1, ZIC1, IFT122, RAB23, CD96, SPECC1L, WDR35, IFT43, EFNB1, MEGF8, ERF, MSX2, POR, RECQL4
Specificity
6 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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